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rs386833862

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833862(A;A)
Make rs386833862(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848767
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833862
ebirs386833862
HLIrs386833862
Exacrs386833862
Varsomers386833862
Maprs386833862
PheGenIrs386833862
hapmaprs386833862
1000 genomesrs386833862
hgdprs386833862
ensemblrs386833862
gopubmedrs386833862
geneviewrs386833862
scholarrs386833862
googlers386833862
pharmgkbrs386833862
gwascentralrs386833862
openSNPrs386833862
23andMers386833862
23andMe allrs386833862
SNP Nexus

SNPshotrs386833862
SNPdbers386833862
MSV3drs386833862
GWAS Ctlgrs386833862
Max Magnitude0
ClinVar
Risk rs386833862(A;A)
Alt rs386833862(A;A)
Reference rs386833862(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339669C>T
CLNSRC ClinVar
CLNACC RCV000049831.1,


[PMID 20172850OA-icon.png] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).